thrombophilia due to thrombin defect

Summary
Synonym
  • THPH1
  • prothrombin-related thrombophilia
  • thrombophilia due to factor 2 defect
Definition
A thrombophilia characterized by recurrent thrombophilia that has_material_basis_in heterozygous mutation in F2 on chromosome 11p11.2.
Super Class
autosomal dominant disease thrombophilia
Disease Ontology
DOID:0111907
Mondo Disease Ontology
UMLS
OMIM
GARD
Related Genes
Displaying all 3 entries
Gene ID Gene Symbol Description Source
2147 F2 coagulation factor II, thrombin
2162 F13A1 coagulation factor XIII A chain
3026 HABP2 hyaluronan binding protein 2
Displaying all 2 entries
Gene ID Gene Symbol Description Source
14061 F2 coagulation factor II
74145 F13a1 coagulation factor XIII, A1 subunit
Displaying 1 entry
Gene ID Gene Symbol Description Source
60327 F13a1 coagulation factor XIII A1 chain

About Release Notes Help Feedback

Click here to visit the beta site.


International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.1.0

Last updated: December 9, 2024